Associated Papers
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 2025
41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Figure_3A
Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I.
Leier A et al.
Molecular Therapy. Nucleic Acids, 2022
35433111 (PubMed )
Supplement: mmc1.pdf
Integrative Genomic Profiling Uncovers Therapeutic Targets of Acral Melanoma in Asian Populations.
Shi Q et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022
35294533 (PubMed )
Supplement: ccr-21-3344_supplementary_data_suppsd1.xlsx › Table_S6
Case report of neurofibromatosis type 1 combined with primary ciliary dyskinesia.
Bian C et al.
Frontiers of Medicine, 2021
GABA deficit in the visual cortex of patients with neurofibromatosis type 1: genotype-phenotype correlations and functional impact.
Violante IR et al.
Brain : a Journal of Neurology, 2013
Abnormal achromatic and chromatic contrast sensitivity in neurofibromatosis type 1.
Ribeiro MJ et al.
Investigative Ophthalmology & Visual Science, 2012
Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients.
Ars E et al.
Journal of Medical Genetics, 2003
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